Yosuke Nishio

Nagoya, Japan

Last Updated: 09/26/2026

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Found 23 publications

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Journal: Molecular genetics & genomic medicine
Published: March 23, 2026

Gerstmann-Sträussler-Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands.

Gerstmann-Sträussler-Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands.

Journal: Multiple sclerosis (Houndmills, Basingstoke, England)
Published: December 29, 2025

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Journal: Human genome variation
Published: December 17, 2025

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

Journal: Internal medicine (Tokyo, Japan)
Published: October 22, 2025

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications
Published: October 17, 2025

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Journal: Science translational medicine
Published: July 02, 2025

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome.

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome.

Journal: Scientific reports
Published: June 03, 2025

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

Journal: The Journal of clinical investigation
Published: May 23, 2025

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.

Journal: Human genome variation
Published: March 09, 2025

Early discontinuation of steroid treatment in children with abdominal pain due to IgA vasculitis.

Early discontinuation of steroid treatment in children with abdominal pain due to IgA vasculitis.

Journal: European journal of pediatrics
Published: January 06, 2025

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Journal: Human genome variation
Published: September 27, 2024
Showing 1-12 of 23

Last Updated: 09/26/2026